Article
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
American journal of human genetics - 1 Nov 2001
Schwarze U, Schievink W I, Petty E, Jaff M R, Babovic-Vuksanovic D, Cherry K J, Pepin M, Byers P H
Abstract excerpt
Mutations in the COL3A1 gene that encodes the chains of type III procollagen result in the vascular form of Ehlers-Danlos syndrome (EDS), EDS type IV, if they alter the sequence in the triple-helical domain. Although other fibrillar collagen-gene mutations that lead to allele instability or failure to incorporate proalpha-chains into trimers-and that thus reduce the amount of mature molecules produced-result in...
Topics
- Alleles
- Base Sequence
- Blotting, Western
- Cell Nucleus
- Cells, Cultured
- Codon, Nonsense
- Collagen
- Collagen Type III
- Cytoplasm
- DNA Mutational Analysis
- Ehlers-Danlos Syndrome
- Exons
- Fibroblasts